Varaico: Literature-Extracted Genetic Variants

PTPRK

151 papers

RefSeq Summary

The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell gro...

Pfam Domains

MAMaa 36–193UCSCMAM domain, meprin/A5/mu

I-setaa 196–288UCSCImmunoglobulin I-set domain

fn3aa 492–589UCSCFibronectin type III domain

Fn3_PTPRUaa 590–735UCSCReceptor-type tyrosine-protein phosphatase U Fn3 domain

Y_phosphataseaa 910–1140UCSCProtein-tyrosine phosphatase

Y_phosphataseaa 1200–1434UCSCProtein-tyrosine phosphatase

Gene Aliases

HGNC Name

protein tyrosine phosphatase receptor type K

HGNC Alias Symbol

R-PTP-kappa

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002844.4

p.A944fs

c.2830_2831fs

Surrounding Variants

1 paper

NM_002844.4

p.S938F

c.2813C>T

1 paper

NM_002844.4

p.P932T

c.2794C>A

1 paper

NM_002844.4

p.R916L

c.2747G>T

1 paper

NM_002844.4

p.R916Q

c.2747G>A

1 paper

NM_002844.4

p.N915insFs

c.2744dupA

1 paper

NM_002844.4

p.N915fs

c.2743_2744fs

1 paper

NM_002844.4

p.K908Q

c.2722A>C

1 paper

NM_002844.4

p.K907Q

c.2719A>C

1 paper

NM_002844.4

p.A906D

c.2717C>A

1 paper

NM_002844.4

p.S902C

c.2705C>G

1 paper

NM_002844.4

p.A901G

c.2702C>G

1 paper

NM_002844.4

p.G887R

c.2659G>C